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November 17, 2005

Gross Deletion Detection Now Available with the Ambry Test for Cystic Fibrosis


Irvine, California, USA – Ambry Genetics, a worldwide leader in genetic testing, announced it has introduced a valuable enhancement to its CF molecular testing menu. The Ambry Test: CF Amplified can now detect gross deletions, increasing the detection rates of genetic abnormalities that can cause CF. Gross deletions for CF have been commercially undetectable until now.

This is the next obvious step in improving the molecular diagnosis of CF but no one had been able to bring it to market, said Charles Dunlop, Chief Executive Officer of Ambry Genetics. I am proud that our research department has made us the first company to provide the clinical market with this breakthrough technology and offer health care professionals a higher level of resolution in their diagnosis, continued Dunlop.

The Ambry Test: CF and The Ambry Test: CF Amplified combine scanning and sequencing technologies to analyze a genes entire coding region plus surrounding critical introns. The tests provide the most comprehensive analysis of the CFTR gene currently available, scanning for the more than 1,300 known mutations rather than simply identifying 25 to 100 specific mutations. Gross deletion testing can aid in those cases when full gene sequence analysis has not resulted in a conclusive diagnosis.

Gross deletions comprise a significant percentage of mutations causing CF. Since Ambry
Genetics new deletion assay may solve more patient dilemmas by providing a complete explanation, Ambry Genetics is offering to retest individuals, when appropriate, at a reduced cost.

Source: Ambry Genetics, May 20, 2000, www.ambrygen.com

 
 

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